網膜色素変性症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)	ABCA4	Likely pathogenic	1	94485220	94485220	C	A	criteria provided, single submitter	ClinGen:CA227275,UniProtKB:P78363#VAR_012587
Deletion	NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	ABCA4	Pathogenic	1	94485172	94485173	GGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227278
single nucleotide variant	NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)	ABCA4	Pathogenic	1	94485148	94485148	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227279,UniProtKB:P78363#VAR_008465
single nucleotide variant	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Pathogenic	1	94485137	94485137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227280
Deletion	NM_000350.3(ABCA4):c.5196+3_5196+6del	ABCA4	Pathogenic/Likely pathogenic	1	94485132	94485135	CACTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227281
single nucleotide variant	NM_000350.3(ABCA4):c.5196+2T>C	ABCA4	Pathogenic/Likely pathogenic	1	94485136	94485136	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227284
single nucleotide variant	NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro)	ABCA4	Likely pathogenic	1	94481401	94481401	A	G	criteria provided, single submitter	ClinGen:CA227286,UniProtKB:P78363#VAR_012589
Deletion	NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)	ABCA4	Pathogenic	1	94481375	94481385	TGCCCACCACCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227288
single nucleotide variant	NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg)	ABCA4	Pathogenic	1	94481365	94481365	C	T	criteria provided, single submitter	ClinGen:CA227290,UniProtKB:P78363#VAR_012590
single nucleotide variant	NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter)	ABCA4	Pathogenic	1	94481359	94481359	G	A	criteria provided, single submitter	ClinGen:CA227291